Mutations in GRIP1 cause Fraser syndrome

Fraser syndrome (FS) is a rare genetically heterogeneous recessive disorder. FS patients are born with severe malformations affecting their eyes (cryptophthalmos), skin covering the digits (cutaneous syndactyly), respiratory tract, kidneys and genitals. The molecular defect underlying the majority of FS patients is unknown. Thus far mutations in two genes (FRAS1 and FREM2) are known to cause Fraser Syndrome. We tested FS patients without a molecular diagnosis. In three patients we could pinpoint the genetic defect in the GRIP1 gene.  This study demonstrates the involvement of GRIP1 in Fraser syndrome in humans. The results expand the possibilities for diagnostic testing and early prenatal diagnosis for Fraser syndrome patients and their families. (By Dr. Maartje Vogel, http://jmg.bmj.com/content/early/2012/04/16/jmedgenet-2011-100590 )